Canonical Allele Identifier: CA645534157
Gene: JAGN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890750_9890787del , CM000665.2:g.9890750_9890787del GRCh38
NC_000003.11:g.9932434_9932471del , CM000665.1:g.9932434_9932471del GRCh37
NC_000003.10:g.9907434_9907471del NCBI36
NG_041779.1:g.5164_5201del

Transcript Alleles

HGVS Amino-acid change
ENST00000489724.2:c.28_65del ENSP00000497724.1:p.Ala10ArgfsTer26
ENST00000647897.1:c.28_65del MANE Select ENSP00000496942.1:p.Ala10ArgfsTer14
ENST00000307768.4:c.28_65del ENSP00000306106.4:p.Ala10ArgfsTer14
ENST00000489724.1:n.118_155del
ENST00000616966.2:c.28_65del ENSP00000481606.1:p.Ala10ArgfsTer14
NM_032492.3:c.28_65del NP_115881.3:p.Ala10ArgfsTer14
NM_001363890.1:c.-241_-204del NP_001350819.1:n.-241_-204del
NM_032492.4:c.28_65del MANE Select NP_115881.3:p.Ala10ArgfsTer14